Identification of a novel FERMT1 variant causing kindler syndrome and a review of the clinical and molecular genetic features in Chinese patients

BackgroundKindler Syndrome (KS, OMIM #173650), a rare autosomal recessive genetic disorder, is characterized by a spectrum of symptoms such as cutaneous fragility, blistering, photosensitivity, and mucosal involvement. These symptoms result from variations in the FERMT1 gene (Fermitin family member...

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Main Authors: Qiang Zhang (Author), Qi Yang (Author), Fei Shen (Author), Linlin Wang (Author), Jingsi Luo (Author)
Format: Book
Published: Frontiers Media S.A., 2024-09-01T00:00:00Z.
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